Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.

doi:10.1016/j.ajhg.2022.03.015

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Article

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.

American journal of human genetics - 5 May 2022

Devane John, Ott Elisabeth, Olinger Eric G, Epting Daniel, Decker Eva, Friedrich Anja, Bachmann Nadine, Renschler Gina, Eisenberger Tobias, Briem-Richter Andrea, Grabhorn Enke Freya, Powell Laura, Wilson Ian J, Rice Sarah J, Miles Colin G, Wood Katrina, Trivedi Palak, Hirschfield Gideon, Pietrobattista Andrea, Wohler Elizabeth, Mezina Anya, Sobreira Nara, Agolini Emanuele, Maggiore Giuseppe, Dahmer-Heath Mareike, Yilmaz Ali, Boerries Melanie, Metzger Patrick, Schell Christoph, Grünewald Inga, Konrad Martin, König Jens, Schlevogt Bernhard, Sayer John A, Bergmann Carsten

Abstract excerpt

Organ fibrosis is a shared endpoint of many diseases, yet underlying mechanisms are not well understood. Several pathways governed by the primary cilium, a sensory antenna present on most vertebrate cells, have been linked with fibrosis. Ciliopathies usually start early in life and represent a considerable disease burden. We performed massively parallel sequencing by using cohorts of genetically unsolved...

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Identifiers

PMID: 35397207
DOI: 10.1016/j.ajhg.2022.03.015
PMCID: PMC9118107

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